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Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 1, pp. 54 - 62
Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine... 
Neurology | METABOLITES | TRANSMISSION | INFANTILE PARKINSONISM-DYSTONIA | CSF | NEUROSCIENCE | DISORDERS | TYROSINE-HYDROXYLASE DEFICIENCY | MONOAMINE TRANSPORTERS | CLINICAL NEUROLOGY | Brain - diagnostic imaging | Dystonia - cerebrospinal fluid | Parkinsonian Disorders - cerebrospinal fluid | Tomography, Emission-Computed, Single-Photon - methods | Humans | Child, Preschool | Dopamine Plasma Membrane Transport Proteins - deficiency | Hydroxyindoleacetic Acid - cerebrospinal fluid | Infant | Male | Ocular Motility Disorders - genetics | Dystonia - genetics | Transfection - methods | Parkinsonian Disorders - diagnostic imaging | Female | Parkinsonian Disorders - genetics | Retrospective Studies | Homovanillic Acid - cerebrospinal fluid | Child | Parkinsonian Disorders - physiopathology | Dystonia - physiopathology | Mutation - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Brain - pathology | Ocular Motility Disorders - physiopathology | Dystonia - diagnostic imaging | Cell Line, Transformed | Cohort Studies | Medical colleges | Medical research | Neurosciences | Dopamine | Molecular genetics | Medicine, Experimental | Phenols | Genetic aspects | Biomedical engineering | Pediatrics | Basal ganglia | Congenital defects | Central nervous system diseases | homovanillic acid | Photons | Cerebrospinal fluid | Pyramidal tracts | Drug development | Hereditary diseases | Eye | Hospitals | Computed tomography | Phenotyping | Dopamine transporter | Children | Mutation | Paralysis | Age | Movement disorders | Fast track
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 188 - 188
Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine... 
Multiple mitochondrial dysfunctions syndrome | Organic aciduria | 3-hydroxy-isobutyryl-CoA hydrolase | Pyruvate dehydrogenase deficiency | Acylcarnitines | Valine catabolism | Mitochondrial disease | HIBCH | Multiple respiratory chain enzyme deficiencies | MEDICINE, RESEARCH & EXPERIMENTAL | GLUTATHIONE DEFICIENCY | ABNORMALITIES | NEURODEGENERATION | THIOL STATUS | DNA DEPLETION | COA | PROPIONIC ACIDURIA | GENETICS & HEREDITY | ACIDURIA TYPE-I | ETHYLMALONIC ENCEPHALOPATHY | METHYLMALONIC ACIDURIA | Mitochondrial Diseases - genetics | Humans | Leigh Disease - enzymology | Child, Preschool | Infant | Ketone Oxidoreductases - deficiency | Male | Ketone Oxidoreductases - genetics | Leigh Disease - genetics | Mitochondrial Diseases - enzymology | Thiolester Hydrolases - genetics | Mutation | Child | Infant, Newborn | Siblings | Care and treatment | Pyruvate dehydrogenase complex | Gene mutations | Leigh disease | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Sulfur compounds | Enzymes | Nervous system diseases | Genes | Genetic research | Muscles | Hydrolases | Mitochondrial DNA | Carnitine | Medical equipment and supplies industry | Medical test kit industry | Brain | Nuclear magnetic resonance--NMR | Dehydrogenases | Disease | Patients | Defects | Studies | Hospitals | Metabolites | Mass spectrometry | Metabolic disorders
Journal Article
BBA - Proteins and Proteomics, ISSN 1570-9639, 06/2016, Volume 1864, Issue 6, pp. 676 - 682
We report here a clinical case of a patient with a novel mutation (Arg347 → Gly) in the gene encoding aromatic amino acid decarboxylase (AADC) that is... 
Pathogenic variant | Pyridoxal 5′-phosphate | Aromatic amino acid decarboxylase | AADC deficiency | Pyridoxal 5'-phosphate | Enzymes | Amino acids | Genetic aspects | Catalysis | Hydrogen | Analysis | Glycine
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2019, Volume 90, Issue 12, p. e4
Polyneuropathies are amongst the most common neurological conditions worldwide affecting over 20 million people. However, 40% of patients with primary... 
Journal Article
Journal Article
Neurochemistry International, ISSN 0197-0186, 2008, Volume 53, Issue 3, pp. 95 - 101
Journal Article